Etiology
Vaia Y,
Mura E,
Tonduti D
Mol Genet Metab
2023 Mar;138(3):107540.
Epub 2023 Feb 10
doi: 10.1016/j.ymgme.2023.107540.
PMID: 36804850
Lynch DS,
Wade C,
Paiva ARB,
John N,
Kinsella JA,
Merwick Á,
Ahmed RM,
Warren JD,
Mummery CJ,
Schott JM,
Fox NC,
Houlden H,
Adams ME,
Davagnanam I,
Murphy E,
Chataway J
J Neurol Neurosurg Psychiatry
2019 May;90(5):543-554.
Epub 2018 Nov 22
doi: 10.1136/jnnp-2018-319481.
PMID: 30467211Free PMC Article
Marelli C,
Salsano E,
Politi LS,
Labauge P
J Neurol Neurosurg Psychiatry
2019 Feb;90(2):211-218.
Epub 2018 Aug 27
doi: 10.1136/jnnp-2018-318666.
PMID: 30150321
Platt FM,
d'Azzo A,
Davidson BL,
Neufeld EF,
Tifft CJ
Nat Rev Dis Primers
2018 Oct 1;4(1):27.
doi: 10.1038/s41572-018-0025-4.
PMID: 30275469
Köhler W,
Curiel J,
Vanderver A
Nat Rev Neurol
2018 Feb;14(2):94-105.
Epub 2018 Jan 5
doi: 10.1038/nrneurol.2017.175.
PMID: 29302065
Diagnosis
Benzoni C,
Moscatelli M,
Farina L,
Magri S,
Ciano C,
Scaioli V,
Alverà S,
Cammarata G,
Bianchi-Marzoli S,
Castellani M,
Zito FM,
Marotta G,
Piacentini S,
Villacara A,
Mantegazza R,
Gellera C,
Durães J,
Gouveia A,
Matos A,
do Carmo Macário M,
Pareyson D,
Taroni F,
Di Bella D,
Salsano E
J Neurol
2023 Sep;270(9):4219-4234.
Epub 2023 May 12
doi: 10.1007/s00415-023-11762-7.
PMID: 37171481
Lynch DS,
Wade C,
Paiva ARB,
John N,
Kinsella JA,
Merwick Á,
Ahmed RM,
Warren JD,
Mummery CJ,
Schott JM,
Fox NC,
Houlden H,
Adams ME,
Davagnanam I,
Murphy E,
Chataway J
J Neurol Neurosurg Psychiatry
2019 May;90(5):543-554.
Epub 2018 Nov 22
doi: 10.1136/jnnp-2018-319481.
PMID: 30467211Free PMC Article
Köhler W,
Curiel J,
Vanderver A
Nat Rev Neurol
2018 Feb;14(2):94-105.
Epub 2018 Jan 5
doi: 10.1038/nrneurol.2017.175.
PMID: 29302065
Gieselmann V,
Krägeloh-Mann I
Neuropediatrics
2010 Feb;41(1):1-6.
Epub 2010 Jun 22
doi: 10.1055/s-0030-1253412.
PMID: 20571983
Baumann N,
Turpin JC
J Neurol
2000 Oct;247(10):751-9.
doi: 10.1007/s004150070088.
PMID: 11127529
Therapy
Kumar NH,
Mounika KJ,
Sundarachary NV
Neurol India
2023 Mar-Apr;71(2):326-328.
doi: 10.4103/0028-3886.375409.
PMID: 37148062
Nadjar Y,
Hütter-Moncada AL,
Latour P,
Ayrignac X,
Kaphan E,
Tranchant C,
Cintas P,
Degardin A,
Goizet C,
Laurencin C,
Martzolff L,
Tilikete C,
Anheim M,
Audoin B,
Deramecourt V,
De Gaillarbois TD,
Roze E,
Lamari F,
Vanier MT,
Héron B
Orphanet J Rare Dis
2018 Oct 1;13(1):175.
doi: 10.1186/s13023-018-0913-4.
PMID: 30285904Free PMC Article
van Rappard DF,
Königs M,
Steenweg ME,
Boelens JJ,
Oosterlaan J,
van der Knaap MS,
Wolf NI,
Pouwels PJW
J Neurol
2018 Mar;265(3):659-668.
Epub 2018 Jan 30
doi: 10.1007/s00415-018-8765-3.
PMID: 29383515Free PMC Article
Sands SA,
LeVine SM
J Neurosci Res
2016 Nov;94(11):1261-72.
doi: 10.1002/jnr.23791.
PMID: 27638608
Bongarzone ER,
Escolar ML,
Gray SJ,
Kafri T,
Vite CH,
Sands MS
Pediatr Endocrinol Rev
2016 Jun;13 Suppl 1:689-96.
PMID: 27491217
Prognosis
Vaia Y,
Mura E,
Tonduti D
Mol Genet Metab
2023 Mar;138(3):107540.
Epub 2023 Feb 10
doi: 10.1016/j.ymgme.2023.107540.
PMID: 36804850
Bradbury AM,
Bongarzone ER,
Sands MS
Neurosci Lett
2021 May 1;752:135841.
Epub 2021 Mar 22
doi: 10.1016/j.neulet.2021.135841.
PMID: 33766733Free PMC Article
Platt FM,
d'Azzo A,
Davidson BL,
Neufeld EF,
Tifft CJ
Nat Rev Dis Primers
2018 Oct 1;4(1):27.
doi: 10.1038/s41572-018-0025-4.
PMID: 30275469
Köhler W,
Curiel J,
Vanderver A
Nat Rev Neurol
2018 Feb;14(2):94-105.
Epub 2018 Jan 5
doi: 10.1038/nrneurol.2017.175.
PMID: 29302065
Baumann N,
Turpin JC
J Neurol
2000 Oct;247(10):751-9.
doi: 10.1007/s004150070088.
PMID: 11127529
Clinical prediction guides
Benzoni C,
Moscatelli M,
Farina L,
Magri S,
Ciano C,
Scaioli V,
Alverà S,
Cammarata G,
Bianchi-Marzoli S,
Castellani M,
Zito FM,
Marotta G,
Piacentini S,
Villacara A,
Mantegazza R,
Gellera C,
Durães J,
Gouveia A,
Matos A,
do Carmo Macário M,
Pareyson D,
Taroni F,
Di Bella D,
Salsano E
J Neurol
2023 Sep;270(9):4219-4234.
Epub 2023 May 12
doi: 10.1007/s00415-023-11762-7.
PMID: 37171481
Ayrignac X,
Carra-Dallière C,
Marelli C,
Taïeb G,
Labauge P
JAMA Neurol
2022 Oct 1;79(10):1069-1078.
doi: 10.1001/jamaneurol.2022.2141.
PMID: 35969413
Cousyn L,
Law-Ye B,
Pyatigorskaya N,
Debs R,
Froissart R,
Piraud M,
Federico A,
Salvatore S,
Cerase A,
Macário MC,
Durães J,
Kim SH,
Adachi H,
Audoin B,
Ayrignac X,
Da Y,
Henderson R,
La Piana R,
Laule C,
Nakamagoe K,
Raininko R,
Schols L,
Sirrs SM,
Viader F,
Jastrzębski K,
Leclercq D,
Nadjar Y
Neurology
2019 Aug 13;93(7):e647-e652.
Epub 2019 Jul 23
doi: 10.1212/WNL.0000000000007943.
PMID: 31337714
Komatsuzaki S,
Zielonka M,
Mountford WK,
Kölker S,
Hoffmann GF,
Garbade SF,
Ries M
Genet Med
2019 Oct;21(10):2208-2215.
Epub 2019 Mar 22
doi: 10.1038/s41436-019-0480-7.
PMID: 30899093
Ayrignac X,
Nicolas G,
Carra-Dallière C,
Hannequin D,
Labauge P
JAMA Neurol
2017 Aug 1;74(8):1000-1008.
doi: 10.1001/jamaneurol.2017.1062.
PMID: 28628708